ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1754A>G (p.Gln585Arg)

gnomAD frequency: 0.00004  dbSNP: rs188247474
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713199 SCV000843785 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713199 SCV001155788 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397497 SCV002714309 uncertain significance Inborn genetic diseases 2023-09-25 criteria provided, single submitter clinical testing The c.1754A>G (p.Q585R) alteration is located in exon 10 (coding exon 8) of the SETX gene. This alteration results from a A to G substitution at nucleotide position 1754, causing the glutamine (Q) at amino acid position 585 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002532950 SCV003281856 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-05-01 criteria provided, single submitter clinical testing

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